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Article

Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.

Molecular aspects of medicine - 1 Jun 2023

Hopkins Christopher E, Brock Trisha, Caulfield Thomas R, Bainbridge Matthew

Abstract excerpt

Precision medicine strives for highly individualized treatments for disease under the notion that each individual's unique genetic makeup and environmental exposures imprints upon them not only a disposition to illness, but also an optimal therapeutic approach. In the realm of rare disorders, genetic predisposition is often the predominant mechanism driving disease presentation. For such, mostly, monogenic...

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PMID: 36411139
DOI: 10.1016/j.mam.2022.101153
PMCID: PMC10073243

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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